Beta Thalassemia-9 Common Mutations Screening (Couple) Test
Short Name: Beta Thalassemia 9 Mutations (Couple)
Also known as: Beta Thalassemia Carrier Screening, Thalassemia Mutation Panel, Beta Globin Gene Mutation Analysis
Beta Thalassemia-9 Common Mutations Screening (Couple) Test test available at DNA Labs India for ₹7,500. Uses End Point PCR, Reverse Dot Blot Hybridization on Peripheral Blood samples. Results in Results are typically available within 3-4 days after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this screening is to identify carriers of beta thalassemia among couples planning to have children. By detecting the nine common mutations in the beta-globin gene, the test helps assess the risk of having a child with beta thalassemia major. This information is vital for genetic counseling and reproductive planning, including options like preimplantation genetic diagnosis, prenatal testing, or adoption. Early detection allows couples to make informed decisions and seek appropriate medical interventions to prevent the birth of an affected child.
- Test Code
- 6050
- CPT Code
- 83891
- ICD Code
- D57.1
- Price
- ₹7,500
- Sample Type
- Peripheral Blood
- Result Time
- Results are typically available within 3-4 days after sample collection.
- Fasting Required
- No
- Method
- End Point PCR, Reverse Dot Blot Hybridization
Sample Collection
No special preparation is required. However, a doctor's prescription is recommended. Inform your physician about any recent blood transfusions or bone marrow transplants.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample (2 ml) will be collected in an EDTA vacutainer by a trained phlebotomist.
Report Delivery
No specific precautions are needed. You can resume normal activities immediately.
Timeline: Results are typically available within 3-4 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this screening is to identify carriers of beta thalassemia among couples planning to have children. By detecting the nine common mutations in the beta-globin gene, the test helps assess the risk of having a child with beta thalassemia major. This information is vital for genetic counseling and reproductive planning, including options like preimplantation genetic diagnosis, prenatal testing, or adoption. Early detection allows couples to make informed decisions and seek appropriate medical interventions to prevent the birth of an affected child.
How to Prepare
- Ensure the EDTA vacutainer is properly labeled with patient details
- Sample should be transported to the laboratory at ambient temperature (15-25°C)
- Avoid hemolysis during collection and transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Carrier screening for beta thalassemia is crucial for couples planning a family. Identifying carriers early allows informed reproductive decisions and reduces the burden of thalassemia major."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Sample received after prolonged delay (>72 hours at ambient temperature)
- Mislabeled or unlabeled sample
Understanding Your Results
Negative
No mutation detected in the 9 common mutations tested. Carrier status for these mutations is unlikely, but rare mutations may still be present.
Action: If clinical suspicion persists, consider extended mutation analysis or hematological evaluation.
Positive (Heterozygous)
One copy of the mutated gene detected. The individual is a carrier (thalassemia minor) and typically asymptomatic.
Action: Genetic counseling recommended. If both partners are carriers, discuss reproductive options.
Positive (Homozygous or Compound Heterozygous)
Two copies of mutated genes detected. This indicates thalassemia major or intermediate, requiring clinical management.
Action: Immediate referral to a hematologist for further evaluation and management.
Consult a genetic counselor or obstetrician if either partner is identified as a carrier. Also, seek medical advice if you have symptoms of anemia, fatigue, or a family history of thalassemia.
Limitations
- ⚠This test detects only the 9 common mutations; rare or novel mutations may not be identified
- ⚠A negative result does not completely rule out carrier status if a rare mutation is present
- ⚠Test is not intended for diagnosis of thalassemia major in symptomatic individuals
- ⚠Results should be interpreted in conjunction with clinical and hematological findings
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection or hematoma
- ●No significant health risks associated with the test
Interfering Factors
- ●Recent blood transfusion within 3 months may dilute patient's DNA, leading to false negative results
- ●Bone marrow transplantation can alter genetic results
- ●Contamination of sample during collection or processing
- ●Incorrect sample labeling or handling
Compare With Similar Tests
| Test | Beta Thalassemia-9 Common Mutations Screening (Couple) | Complete Blood Count (CBC) | Hemoglobin Electrophoresis | Beta Thalassemia Full Gene Sequencing |
|---|---|---|---|---|
| Comparison | Beta Thalassemia-9 Common Mutations Screening (Couple) |
Frequently Asked Questions
What is Beta Thalassemia-9 Common Mutations Screening (Couple)?
Why is this test recommended for couples?
What is the cost of the test?
What sample is required?
Do I need to fast before the test?
How long does it take to get results?
What mutations are covered in this test?
Can this test detect all beta thalassemia mutations?
Is a doctor's prescription required?
Is home sample collection available?
What does a positive result mean?
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